CFTR c.1652_1654del ;(p.G551_Q552delinsE)

Variant ID: 7-117227860-GGTC-G

NM_000492.3(CFTR):c.1652_1654del;(p.G551_Q552delinsE)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping.

American Journal Of Human Genetics
Vermeulen, Carlo C; Geeven, Geert G; de Wit, Elzo E; Verstegen, Marjon J A M MJAM; Jansen, Rumo P M RPM; van Kranenburg, Melissa M; de Bruijn, Ewart E; Pulit, Sara L SL; Kruisselbrink, Evelien E; Shahsavari, Zahra Z; Omrani, Davood D; Zeinali, Fatemeh F; Najmabadi, Hossein H; Katsila, Theodora T; Vrettou, Christina C; Patrinos, George P GP; Traeger-Synodinos, Joanne J; Splinter, Erik E; Beekman, Jeffrey M JM; Kheradmand Kia, Sima S; Te Meerman, Gerard J GJ; Ploos van Amstel, Hans Kristian HK; de Laat, Wouter W
Publication Date: 2017-09-07

Variant appearance in text: CFTR: 1652_1654del
PubMed Link: 28844486
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • mmc5.pdf
  • main.pdf
View BVdb publication page